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一名年轻成年人肝脏发生胚胎性肉瘤的罕见病例:诊断与治疗前景

A rare case of embryonal sarcoma in the liver of a young adult: diagnostic and therapeutic perspectives.

作者信息

Louis Mena, Conway Joseph, Asouzu Maurice, Jones Louise, Singh Hardeep, Royall Nelson A

机构信息

Northeast Georgia Medical Center, General Surgery department, 743 Spring St NE, Gainesville, GA 30501, USA.

Northeast Georgia Medical Center, Gainesville Regional Pathology Associates, 743 Spring St NE, Gainesville, GA 30501, USA.

出版信息

Radiol Case Rep. 2024 Jun 19;19(9):3795-3800. doi: 10.1016/j.radcr.2024.05.048. eCollection 2024 Sep.

Abstract

Embryonal sarcoma of the liver (ESL) is a rare and aggressive neoplasm primarily affecting children, with its occurrence in adults being exceptionally rare. This case report details the presentation, diagnosis, and management of ESL in a 20-year-old patient, highlighting the challenges and strategic approaches required in managing such atypical presentations. The patient presented with progressive right upper quadrant abdominal pain and significant weight loss, with imaging revealing a large mixed-density mass in the right lobe of the liver. Despite the nonspecific clinical symptoms and normal tumor markers, advanced imaging techniques including MRI and CT scans played a pivotal role in the diagnostic process. The mass exhibited characteristics that led to a differential diagnosis of a possible benign condition; however, the decision for surgical resection was made based on the tumor's rapid growth and potential malignancy suggested by imaging. Histopathological examination postsurgery confirmed the diagnosis of ESL. This case illustrates the importance of considering ESL in the differential diagnosis of rapidly enlarging liver masses in adults, despite its rarity in this age group. The effective management of this case through surgical intervention without prior biopsy, due to the risk of tumor seeding, followed by adjuvant chemotherapy, reflects the critical need for a multidisciplinary approach. The outcomes from this case contribute to the existing knowledge base, providing insights into the complexities of diagnosing and treating adult cases of ESL and affirming the adaptability of pediatric protocols to adult patients.

摘要

肝胚胎性肉瘤(ESL)是一种罕见且侵袭性强的肿瘤,主要影响儿童,在成人中极为罕见。本病例报告详细介绍了一名20岁患者ESL的临床表现、诊断和治疗,突出了处理此类非典型表现所面临的挑战和策略。该患者出现进行性右上腹腹痛和显著体重减轻,影像学检查显示肝脏右叶有一个大的混合密度肿块。尽管临床症状不具特异性且肿瘤标志物正常,但包括MRI和CT扫描在内的先进影像学技术在诊断过程中发挥了关键作用。该肿块的特征导致鉴别诊断可能为良性病变;然而,基于影像学提示的肿瘤快速生长和潜在恶性,决定进行手术切除。术后组织病理学检查确诊为ESL。本病例说明,尽管ESL在成人年龄组中罕见,但在成人快速增大的肝脏肿块鉴别诊断中考虑ESL的重要性。由于存在肿瘤种植风险,该病例通过手术干预而非术前活检进行有效治疗,随后进行辅助化疗,这反映了多学科方法的迫切需求。该病例的结果丰富了现有知识库,为成人ESL病例的诊断和治疗复杂性提供了见解,并肯定了儿科方案对成人患者的适用性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e1e/11245908/e0006da78bac/gr1.jpg

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Undifferentiated embryonal sarcoma of the liver: The significance of imaging in establishing a diagnosis.
Pediatr Neonatol. 2023 Jul;64(4):489-490. doi: 10.1016/j.pedneo.2023.03.001. Epub 2023 Mar 16.

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